|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Asthma |
Asthma (time to onset), Asthma, Asthma (childhood onset), Atopic asthma, Asthma (adult onset) |
N/A |
N/A |
GWAS |
| Glioblastoma |
Glioblastoma |
Inhibiting MAP4K4 blocks migration of four adult glioblastoma cell lines |
31570734 |
CBGDA |
| Inflammatory Bowel Disease |
Inflammatory bowel disease |
N/A |
N/A |
GWAS |
| Neurodevelopmental Disorders |
complex neurodevelopmental disorder |
N/A |
N/A |
GenCC |
| Parkinson Disease |
Parkinson's disease |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Autism Spectrum Disorder |
Associate
|
36469137 |
| Azoospermia |
Inhibit
|
36497065 |
| Bantu siderosis |
Associate
|
18840782 |
| Breast Neoplasms |
Associate
|
25148458, 37312710 |
| Carcinogenesis |
Associate
|
26269113 |
| Carcinoma Hepatocellular |
Associate
|
20857524 |
| Cardiomyopathies |
Associate
|
32694738 |
| Cardiotoxicity |
Associate
|
32694738 |
| Colorectal Neoplasms |
Associate
|
26499327, 29138007, 30361904 |
| Developmental Disabilities |
Associate
|
36469137 |
| Diabetes Mellitus |
Associate
|
23094072, 27174326 |
| Diabetes Mellitus Type 2 |
Associate
|
23094072, 26918832, 27174326, 32993798 |
| Fatty Liver |
Associate
|
35679904 |
| Fatty Liver Alcoholic |
Associate
|
35679904 |
| Fibrosis |
Associate
|
35679904 |
| Focal Cortical Dysplasia |
Associate
|
34301297 |
| Focal cortical dysplasia of Taylor |
Associate
|
34301297 |
| Fractures Bone |
Associate
|
25148458 |
| Glioblastoma |
Associate
|
31570734 |
| Glioma |
Associate
|
31570734 |
| Glucose Intolerance |
Associate
|
23094072 |
| Heart Diseases |
Associate
|
32694738 |
| Infertility Male |
Inhibit
|
36497065 |
| Inflammation |
Associate
|
23094072, 24244164 |
| Insulin Resistance |
Associate
|
17227768, 23094072, 27174326 |
| Insulinoma |
Associate
|
23094072 |
| Lead Poisoning Nervous System |
Associate
|
35679904 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
18945750 |
| Leukemia Myeloid Acute |
Associate
|
31522654 |
| Muscle Neoplasms |
Associate
|
32694738 |
| Neoplasm Metastasis |
Associate
|
28591712, 29138007, 29461619, 34112843 |
| Neoplasms |
Associate
|
16537454, 25337707, 32694738, 32810161, 34112843, 35296518, 36292671, 37312710 |
| Non alcoholic Fatty Liver Disease |
Associate
|
35679904 |
| Nonsyndromic Holoprosencephaly |
Associate
|
36469137 |
| Obesity |
Stimulate
|
19351711 |
| Obesity |
Associate
|
26918832 |
| Osteoporosis |
Associate
|
25148458 |
| Ovarian Neoplasms |
Associate
|
36922678 |
| Pancreatic Neoplasms |
Associate
|
26269113, 30710069 |
| Peritonitis |
Associate
|
36922678 |
| Prediabetic State |
Associate
|
23094072 |
| Prostate Cancer Hereditary 7 |
Associate
|
24708576 |
| Prostatic Hyperplasia |
Associate
|
24474452 |
| Prostatic Neoplasms |
Associate
|
31241916, 34112843, 34475205 |
| Sarcoma Kaposi |
Associate
|
24244164 |
| Sick Sinus Syndrome |
Associate
|
36171622 |
| Stomach Neoplasms |
Stimulate
|
26549737 |
| Stomach Neoplasms |
Associate
|
36171622, 36292671 |
| Thyroid Cancer Papillary |
Associate
|
28855631 |
| Thyroid Neoplasms |
Stimulate
|
28855631 |
| Uterine Cervical Neoplasms |
Associate
|
29461619 |
| Wilms Tumor |
Associate
|
32214060 |
|